1. Genes and Genomic Entities
  2. CEP290

CEP290

centrosomal protein 290
OMIM: 610142, Gene2Phenotype

26 panels

Panel Reviews Mode of inheritance Details
26 panels
Red CEP290 in Familial Neural Tube Defects


Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Meckel Syndrome
Red CEP290 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Amber CEP290 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Congenital Obesity
  • ?Bardet-Biedl syndrome 14, OMIM:615991
Red CEP290 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

review Not set
Sources
  • Emory Genetics Laboratory
Red CEP290 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review Not set
Sources
  • Emory Genetics Laboratory
Red CEP290 in Limb disorders


Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Emory Genetics Laboratory
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Bardet-Biedl syndrome 14, 615991
    • Joubert syndrome 5, 610188
    • Leber congenital amaurosis 10
    • Meckel syndrome 4,611134
    • Senior-Loken syndrome 6,610189
    • Polydactyly
    No list CEP290 in Ductal plate malformation


    Version 1.29

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Meckel syndrome 4 (611134)
    • Joubert syndrome 5 (610188)
    • ?Bardet-Biedl syndrome 14 (615991)
    Tags
    • curated_removed
    Red CEP290 in Bardet Biedl syndrome


    Version 2.4
    Latest signed off version: v2.0 (30 Nov 2022)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Senior-Loken syndrome 6, 610189
    • Leber congenital amaurosis 10, 611755
    • Joubert syndrome 5, 610188
    • Bardet-Biedl syndrome 14, 615991
    • Meckel syndrome 4, 611134
    Amber CEP290 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review Not set
    Sources
    • Expert Review Amber
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red CEP290 in Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Red CEP290 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.119

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red CEP290 in Ocular coloboma

    Level 3: Ocular malformations
    Level 2: Ophthalmological disorders
    Version 1.47

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Other
    Phenotypes
    • Joubert syndrome 5
    Red CEP290 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.42

    		review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Green CEP290 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Meckel syndrome 4 611134
    • Senior-Loken syndrome 6 610189
    • Joubert syndrome 5 610188
    • Bardet-Biedl syndrome 14 615991
    • Leber congenital amaurosis 10
    Green CEP290 in Unexplained young onset end-stage renal disease


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    • Joubert syndrome 5 610188lLeber congenital amaurosis 10 611755
    Green CEP290 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JOUBERT SYNDROME TYPE 5
    • LEBER CONGENITAL AMAUROSIS TYPE 10
    • SENIOR-LOKEN SYNDROME TYPE 6
    • BARDET-BIEDL SYNDROME TYPE 14
    • MECKEL SYNDROME TYPE 4
    Green CEP290 in DDG2P


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BARDET-BIEDL SYNDROME TYPE 14 209900
    • LEBER CONGENITAL AMAUROSIS TYPE 10 611755
    • JOUBERT SYNDROME TYPE 5 610188
    • SENIOR-LOKEN SYNDROME TYPE 6 610189
    • MECKEL SYNDROME TYPE 4 611134
    Green CEP290 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.1
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Joubert syndrome 5, 610188Senior-Loken syndrome 6, 610189Leber congenital amaurosis 10, 611755Meckel syndrome 4, 611134Bardet-Biedl syndrome 14, 209900
    • BARDET-BIEDL SYNDROME TYPE 14 (BBS14)
    Green CEP290 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Achromatopsia, Cone, and Cone-rod Dystrophy
    • Bardet-Biedl syndrome 14 (AR)
    • Joubert syndrome 5 (AR)
    • Leber congenital amaurosis 10 (AR)
    • Meckel syndrome type 4 (AR)
    • Senior-Loken syndrome 6 (AR)
    • Leber congenital amaurosis type 10
    • Joubert syndrome 5, 610188
    • Senior-Loken syndrome 6, 610189
    • Leber congenital amaurosis 10, 611755
    • Meckel syndrome 4, 611134
    • Bardet-Biedl syndrome 14, 209900
    • Leber Congenital Amaurosis
    • Eye Disorders
    Green CEP290 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Senior-Loken syndrome 6, 610189
    • Leber congenital amaurosis 10, 611755
    • Joubert syndrome 5, 610188
    • Meckel syndrome 4, 611134
    • ?Bardet-Biedl syndrome 14, 615991
    Green CEP290 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.172

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Eligibility statement prior genetic testing
    • Other
    • Orphanet
    • Expert Review Green
    • Expert list
    Phenotypes
    • 610189
    • 611134
    • 611755
    • 610188
    • Joubert syndrome 5
    • Meckel syndrome 4
    • Senior-Loken syndrome 6
    • Joubert syndrome with oculorenal defect
    • Meckel syndrome
    • Senior-Loken syndrome
    Green CEP290 in Ophthalmological ciliopathies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    • Other
    Phenotypes
    • 610189
    • Meckel syndrome 4
    • Senior-Loken syndrome
    • 611755
    • Joubert syndrome 5
    • Joubert syndrome with oculorenal defect
    • 610188
    • Senior-Loken syndrome 6
    • 611134
    • Meckel syndrome
    Green CEP290 in Neurological ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • 610189
    • Meckel syndrome 4
    • Senior-Loken syndrome
    • 611755
    • Joubert syndrome 5
    • Joubert syndrome with oculorenal defect
    • 610188
    • Senior-Loken syndrome 6
    • 611134
    • Meckel syndrome
    Green CEP290 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.6
    Latest signed off version: v3.5 (1 May 2024)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Orphanet
    • Eligibility statement prior genetic testing
    • Expert list
    • Expert Review Green
    • Other
    Phenotypes
    • 610189
    • Meckel syndrome 4
    • Senior-Loken syndrome
    • 611755
    • Joubert syndrome 5
    • Joubert syndrome with oculorenal defect
    • 610188
    • Senior-Loken syndrome 6
    • 611134
    • Meckel syndrome
    Red CEP290 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • 611755
    • 610189
    • Senior-Loken syndrome
    • 611134
    • 610188
    • Joubert syndrome 5
    • Senior-Loken syndrome 6
    • Meckel syndrome
    • Meckel syndrome 4
    • Joubert syndrome with oculorenal defect
    Green CEP290 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Leber congenital amaurosis 10, 611755
    • Senior-Loken syndrome 6, 610189
    • ?Bardet-Biedl syndrome 14, 615991
    • Joubert syndrome 5, 610188
    • Meckel syndrome 4, 611134